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Mitochondrial DNA disorders

Product Code: mtDNA-25

From £445.00

Registration closed: 30/11/2024

Applicable to all labs undertaking molecular genetic testing for this group of mitochondrial disorders

Target/Genes:

Variants in mtDNA (mitochondrial genome). Mitochondrial disorders which MAY be covered by the EQA scheme include MELAS, NARP, LHON, MERRF, Leigh syndrome, and Pearson syndrome. Levels of homo/heteroplasmy will be assessed.

Technology:

CNV, MLPA, NGS, PCR based, Sanger sequencing

Language:

English

Sample Type:

DNA (in TE Buffer)

Accredited:

Yes

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EQA Assessment

The scheme is designed to assess the analytical
process (genotyping), and reporting (biological and clinical interpretation of
the test result) including the overall report layout, content and clerical
accuracy. If your laboratory does not provide clinical interpretation,
supporting information must be uploaded explaining the reason for this.

Sample Details

Three mock clinical cases with matching samples will
be provided.

Approximately 2µg DNA per sample is provided. Complete
information will be available in scheme instructions.

EQA Results

Participants
will receive an individual report including educational advice and a scheme
report which includes additional information from the cohort of participants
including geographical spread, methodologies employed, common errors, learning
points and scheme statistics allowing participants to benchmark their results.

Each
laboratory will also receive a single certificate listing all EQAs participated
in with performance result for each year.

Participation Information

Open to laboratories from ALL countries (note: some restrictions may apply*)

*Sanctions, delivery network exceptions, restrictions on importation etc.

How it works

Register

  • Enrol before the closing date
  • EMQN ships EQA samples or digital cases

Test & submit results

  • Analyse samples in your routine workflow
  • Upload results via QA Manager

Review & get certified

  • EMQN benchmarks your data
  • Receive final report & Certificate of Participation

Enquire about this scheme

Contact Information

Phone

+44 161 757 1591

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    Product Code: mtDNA-25

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    cfDNA extraction from plasma (Round 2)

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    This EQA will be distributed in SEPTEMBER 2025.

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    • Language: English
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    Cardiac Genetics Gene Panel: Hypertrophic Cardiomyopathies

    Product Code: mtDNA-25

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    Registration closed: 30/11/2024

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    • Language: English
    • Accredited: Yes
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    Product Code: mtDNA-25

    From £445.00

    Registration closed: 30/11/2024

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    • Language: English
    • Accredited: Yes
    Register Interest More Information

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+44 161 757 1591

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Manchester
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UK

office@emqn.org
+44 161 757 1591

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